ClinVar Miner

List of variants reported as pathogenic for KBG syndrome by Génétique des Maladies du Développement, Hospices Civils de Lyon

Included ClinVar conditions (1):
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Total variants: 2
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HGVS dbSNP
NM_012330.4(KAT6B):c.2408_2412del (p.Asn803fs) rs1564606246
NM_013275.6(ANKRD11):c.3198_3199del (p.His1066fs) rs1567574291

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